ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)

dbSNP: rs1553325274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000577991 SCV000679821 uncertain significance Arrhythmogenic right ventricular dysplasia 2 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578067 SCV000679822 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577933 SCV000679823 uncertain significance Left ventricular noncompaction 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000578067 SCV001497317 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 4471 of the RYR2 protein (p.Gly4471Ala). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 488158). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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